Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_177400.3:c.196del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617560.3.1 | Saudi Arabia | Global developmental delay; Generalized hyperreflexia; Spastic tetraplegia; Visual impairment; Hearing impairment; Abnormal myelination; Thin corpus callosum; Brain atrophy | Male | Yes | Yes | Proband from 'family 3' in the publication. He has 3 similarly affected fourth-degree relatives |